{
    "disease_id": "DOID:0112003",
    "recommended_name": {
        "id": "DOID:0112003",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112003",
        "name": "immunodeficiency 33",
        "description": "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112003",
            "name": "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112003",
            "name": "IMD33",
            "description": ""
        },
        {
            "id": "DOID:0112003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112003",
            "name": "X-linked MSMD due to IKBKG deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112003",
            "name": "X-linked MSMD due to NEMO deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112003",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112003",
            "name": "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency 33",
            "description": "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene."
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "IKBKG invasive pneumococcal disease, recurrent isolated",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "IMD33",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency 33, Mycobacteriosis, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency 33, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency type 33",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency without anhidrotic ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "invasive pneumococcal disease, recurrent isolated, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "invasive pneumococcal disease, recurrent isolated, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "IPD2",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "NEMO deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "NF-kappa B essential modulator deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "atypical Mycobacteriosis, familial, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "familial X-linked 1 atypical mycobacteriosis",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency, Pure",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency 33",
            "description": "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene."
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "IKBKG invasive pneumococcal disease, recurrent isolated",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "IMD33",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency 33, Mycobacteriosis, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency 33, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency type 33",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency without anhidrotic ectodermal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "invasive pneumococcal disease, recurrent isolated, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "invasive pneumococcal disease, recurrent isolated, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "IPD2",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "NEMO deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "NF-kappa B essential modulator deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "atypical Mycobacteriosis, familial, X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "familial X-linked 1 atypical mycobacteriosis",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency, Pure",
            "description": ""
        },
        {
            "id": "MONDO:0010386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010386",
            "name": "immunodeficiency, isolated",
            "description": ""
        },
        {
            "id": "MIM:300636",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300636",
            "name": "Immunodeficiency 33",
            "description": "Immunodeficiency 33"
        }
    ]
}